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Additional findings_Paediatric

Gene: FH

Green List (high evidence)
FH (fumarate hydratase)
EnsemblGeneIds (GRCh38): ENSG00000091483
EnsemblGeneIds (GRCh37): ENSG00000091483
OMIM: 136850, Gene2Phenotype
FH is in 18 panels

1 review

Lilian Downie (Victorian Clinical Genetics Services)

Green List (high evidence)

Curated for 2 disease associations by Babyseq, rated 'A' for Fumurase deficiency (AR) and 'C) for Leiomyomatosis and renal cell cancer due to being adult onset.
Created: 6 Oct 2020, 3:15 a.m. | Last Modified: 6 Oct 2020, 3:15 a.m.
Panel Version: 0.106

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Fumurase deficiency MIM# 606812; Leiomyomatosis and renal cell cancer MIM# 150800

Created: 6 Oct 2020, 3:15 a.m.
Last Modified: 6 Oct 2020, 3:15 a.m.
Panel version: 0.106

History Filter Activity

6 Oct 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: fh has been classified as Green List (High Evidence).

6 Oct 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: FH were changed from Leiomyomatosis and renal cell cancer; Fumarase deficiency to Fumurase deficiency MIM# 606812

6 Oct 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: FH was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal

6 Oct 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: fh has been classified as Green List (High Evidence).

27 Aug 2020, Gel status: 1

Added New Source, Added New Source, Set mode of inheritance, Set Phenotypes, Status Update

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Source BabySeq Category C gene was added to FH. Source Expert Review Red was added to FH. Mode of inheritance for gene FH was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Leiomyomatosis and renal cell cancer for gene: FH Rating Changed from Green List (high evidence) to Red List (low evidence)

27 Aug 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Added phenotypes Fumarase deficiency for gene: FH

27 Aug 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: FH was added gene: FH was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: FH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FH were set to Fumarase deficiency